Copy number variants [NEW TOPIC PAGE]

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Last Posted: Nov 14, 2019

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• Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
  Riggs Erin Rooney et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov
• From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
  Lindstrand Anna, et al. Genome medicine 2019 11 0. (1) 68
• Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
  McCreary Dara et al. JAMA network open 2019 Oct 2(10) e1914274
• Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease
  E Fotieu et al, Circulation Genomics and Precision Medicine, October 2019
• Impact of Emerging Technologies in Prenatal Genetic Counseling.
  Stevens Blair et al. Cold Spring Harbor perspectives in medicine 2019 Sep
• Noninvasive prenatal testing: from aneuploidy to single genes.
  Guseh Stephanie H et al. Human genetics 2019 Sep
• Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer.
  Wrzeszczynski Kazimierz O et al. The Journal of molecular diagnostics : JMD 2018 20(6) 822-835
• Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
  Pelttari L M et al. Clinical genetics 2018 93(3) 595-602
• Genomic disorders 20 years on-mechanisms for clinical manifestations.
  Harel T et al. Clinical genetics 2018 93(3) 439-449
• Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
  Brandt Tracy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Sep

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